Insight and Advancement in Hereditary Retinal Degenerations

Abstract

Hereditary retinal degenerations comprise a diverse group of inherited genetic defects in one or more retinal or retinal pigment epithelial cellular proteins. Traditionally, anatomic classification based on clinical and histopathological phenotype has been used to organise these disorders. In the modern era of advanced molecular biological techniques and genetic screening the current classification system may soon become obsolete, due to the fact that significant overlap between different retinal degenerations has been observed, resulting from variation in gene expression, common genetic pathways and variable inheritance patterns. In this article, we review the various clinical disease entities, emphasise a genetic classification system and give special attention to recent advances in molecular biology and gene therapy.